Variant report

Variant	nsv900693
Chromosome Location	chr13:85226116-85291768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:85244609..85247109-chr13:85249770..85251885,2	K562	blood:
2	chr13:85244609..85247109-chr13:85249770..85251885,2	K562	blood:

Extended variants
information (count: 1053 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1053 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7323262	chr13:85226116-85226117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531639400	chr13:85226147-85226148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550148471	chr13:85226148-85226149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577766919	chr13:85226179-85226180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568458420	chr13:85226192-85226193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76755888	chr13:85226194-85226195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547891009	chr13:85226217-85226218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545150294	chr13:85226220-85226221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539612045	chr13:85226231-85226232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558339809	chr13:85226234-85226235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576611344	chr13:85226251-85226252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537745790	chr13:85226252-85226253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141533479	chr13:85226260-85226261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77392995	chr13:85226290-85226291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57015316	chr13:85226295-85226296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7322166	chr13:85226301-85226302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs118049629	chr13:85226304-85226305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560852791	chr13:85226330-85226331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572119207	chr13:85226351-85226352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187413820	chr13:85226385-85226386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371398057	chr13:85226449-85226450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564304080	chr13:85226524-85226525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555214400	chr13:85226571-85226572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34850576	chr13:85226573-85226574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67944185	chr13:85226621-85226622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550086073	chr13:85226661-85226662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561990855	chr13:85226662-85226663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374592353	chr13:85226663-85226664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112221024	chr13:85226679-85226680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560522114	chr13:85226703-85226704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566001347	chr13:85226722-85226723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115800438	chr13:85226747-85226748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571271056	chr13:85226786-85226787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34468939	chr13:85226791-85226792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371361796	chr13:85226859-85226860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371606190	chr13:85226869-85226870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76067622	chr13:85226876-85226877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191830842	chr13:85226889-85226890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537282046	chr13:85226892-85226893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138466011	chr13:85226905-85226906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577216160	chr13:85227002-85227003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183020536	chr13:85227006-85227007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567637908	chr13:85227027-85227028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535047567	chr13:85227039-85227040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371285153	chr13:85227048-85227049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117367840	chr13:85227054-85227055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571995503	chr13:85227088-85227089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545875766	chr13:85227092-85227093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529499509	chr13:85227100-85227101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557604893	chr13:85227115-85227116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85219800-85227600	Weak transcription	Right Ventricle	heart
2	chr13:85219800-85229800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:85220400-85228200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:85221400-85227800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:85223600-85228600	Enhancers	Fetal Heart	heart
6	chr13:85223600-85229400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:85225000-85226200	Enhancers	HMEC	breast
8	chr13:85225200-85228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:85225200-85229800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:85225400-85226200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:85225600-85226200	Enhancers	Left Ventricle	heart
12	chr13:85225600-85226600	Weak transcription	Hela-S3	cervix
13	chr13:85225600-85232800	Weak transcription	Osteobl	bone
14	chr13:85226000-85233400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:85227400-85227600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr13:85227400-85229000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr13:85227600-85227800	Enhancers	Right Ventricle	heart
18	chr13:85227800-85228200	Weak transcription	Right Ventricle	heart
19	chr13:85227800-85229200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:85227800-85229600	Enhancers	Primary hematopoietic stem cells	blood
21	chr13:85228000-85228600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr13:85228000-85228800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr13:85228200-85228600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr13:85228200-85228600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr13:85228200-85228600	Enhancers	Right Ventricle	heart
26	chr13:85228200-85229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:85228400-85229400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:85228400-85231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr13:85228600-85229000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr13:85228600-85229600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr13:85228600-85231600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:85228800-85229400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:85228800-85229400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr13:85228800-85229400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:85228800-85230600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr13:85229000-85229600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:85229000-85231000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr13:85229200-85229800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:85229200-85230600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:85229400-85229800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr13:85229400-85230000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr13:85229400-85230400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:85229400-85230600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr13:85229600-85230400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:85229600-85230400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr13:85229600-85230600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr13:85229600-85230800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr13:85229800-85230200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:85229800-85230200	Enhancers	NH-A	brain
50	chr13:85229800-85230400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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